A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5982598



Internal ID21891941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:225039760..225039893hg38UCSC Ensembl
chr1:225227462..225227595hg19UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg38134
hg19134
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17526797
Samples
Known GenesDNAH14
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5982598
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer